Linked Data
ClinVar Variation Id:
630168
dbSNP Id:
rs372586224
ExAC:
1:55527131 G / A
gnomAD v2:
1-55527131-G-A
gnomAD v3:
1-55061458-G-A
gnomAD v4:
1-55061458-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061458G>A , CM000663.2:g.55061458G>A | GRCh38 |
| NC_000001.10:g.55527131G>A , CM000663.1:g.55527131G>A | GRCh37 |
| NC_000001.9:g.55299719G>A | NCBI36 |
| NG_009061.1:g.26912G>A , LRG_275:g.26912G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*105G>A | ENSP00000501161.2:n.*105G>A | |
| ENST00000710286.1:c.2122G>A | ENSP00000518176.1:p.Val708Met | |
| ENST00000673903.1:c.1390G>A | ENSP00000501257.1:p.Val464Met | |
| ENST00000673913.1:c.615G>A | ENSP00000501161.1:n.615G>A | |
| ENST00000302118.5:c.1765G>A MANE Select | ENSP00000303208.5:p.Val589Met | |
| ENST00000490692.1:n.2311G>A | ||
| NM_174936.3:c.1765G>A , LRG_275t1:c.1765G>A | NP_777596.2:p.Val589Met | |
| NR_110451.1:n.1372G>A | ||
| XM_011541193.1:c.886G>A | XP_011539495.1:p.Val296Met | |
| NM_174936.4:c.1765G>A MANE Select | NP_777596.2:p.Val589Met | |
| NR_110451.2:n.1372G>A |